Extended regions of suspected mis-assembly in the rat reference genome
Shweta RamdasiD, Ayse Bilge OzeliD, Mary Kay Treutelaar, Katie HolliD, Myrna Mandel, Leah C. Solberg WoodsiD, Jun Z. LiiD
Abstract
We performed whole-genome sequencing for eight inbred rat strains commonly used in genetic mapping studies, and they are the founders of the NIH heterogeneous stock (HS) outbred colony. We provide their sequences and variant calls to the rat genomics community. When analyzing the variant calls we identified regions with unusually high heterozygosity. We show that these regions are consistent across the eight inbred strains, including the BN strain, which was the basis of the rat reference genome. These regions show significantly higher read depth than other regions in the genome. The evidence suggests that these regions may contain segmental duplications that are incorrectly overlaid in the reference genome. We provide masks for these suspected regions of mis-assembly as a resource for the community to flag potentially false interpretations of mapping results or functional data.
02 /Specification & Classification
Click any tag to browse matching papers- Citations
- 27
- Organism
- Assay
- Research Focus
- Approach
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats
Tristan V. de Jong, Yanchao Pan, … Hao Chen·Cell GenomicsPeer-reviewed·Mar 26, 2024
- Investigating the impact of reference assembly choice on genomic analyses in a cattle breed
Audald Lloret‐Villas, Meenu Bhati, … Hubert Pausch·BMC GenomicsPeer-reviewed·May 19, 2021
- De novo genome assemblies from two Indigenous Americans from Arizona identify new polymorphisms in non-reference sequences
Çiğdem Köroğlu, Peng Chen, … Leslie J. Baier·bioRxiv·Oct 23, 2023
- De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data
Adam Ameur, Huiwen Che, … Ulf B Gyllensten·GenesPeer-reviewed·Oct 9, 2018
- Single haplotype assembly of the human genome from a hydatidiform mole
Karyn Meltz Steinberg, Valerie K Schneider, … Richard K Wilson·Genome ResearchPeer-reviewed·Nov 4, 2014
- A complete and near-perfect rhesus macaque reference genome: lessons from subtelomeric repeats and sequencing bias
Shilong Zhang, Ning Xu, … Yafei Mao·CellPeer-reviewed·Aug 1, 2026